Canonical Allele Identifier: CA2695213169
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2799614
ClinVar RCV Id: RCV003668633

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461686delinsTCCT , CM000672.2:g.122461686delinsTCCT GRCh38
NC_000010.10:g.124221202delinsTCCT , CM000672.1:g.124221202delinsTCCT GRCh37
NC_000010.9:g.124211192delinsTCCT NCBI36
NG_011554.1:g.5162delinsTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.34delinsTCCT MANE Select ENSP00000357980.3:p.Leu11_Leu12insSer
ENST00000648167.1:c.154+2977delinsTCCT ENSP00000498033.1:n.154+2977delinsTCCT
ENST00000368984.7:c.34delinsTCCT ENSP00000357980.3:p.Leu11_Leu12insSer
NM_002775.4:c.34delinsTCCT NP_002766.1:p.Leu11_Leu12insSer
NM_002775.5:c.34delinsTCCT MANE Select NP_002766.1:p.Leu11_Leu12insSer